Variant report

Variant	rs7868176
Chromosome Location	chr9:116902782-116902783
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116901825..116904823-chr9:116906598..116910253,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10982082	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12006337	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12338900	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12346144	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12352644	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55839647	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	esv2422396	chr9:116792944-117354862	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
3	esv2422492	chr9:116811294-117366643	Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
4	esv2761285	chr9:116811897-117103268	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
5	nsv870215	chr9:116842614-117070344	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	124 gene(s)	inside rSNPs	diseases
6	nsv893752	chr9:116899258-116944333	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv466526	chr9:116901926-116924781	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv615226	chr9:116901926-116924781	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7868176	KIAA1958	cis	parietal	SCAN
rs7868176	COL27A1	cis	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116892800-116916000	Weak transcription	Gastric	stomach
2	chr9:116900000-116903200	Bivalent Enhancer	Placenta	Placenta
3	chr9:116900600-116903200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr9:116900600-116904600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr9:116900800-116905000	Enhancers	Left Ventricle	heart
6	chr9:116900800-116905200	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr9:116900800-116906200	Enhancers	HepG2	liver
8	chr9:116901000-116902800	Weak transcription	Psoas Muscle	Psoas
9	chr9:116901000-116903000	Enhancers	Brain Substantia Nigra	brain
10	chr9:116901200-116903400	Weak transcription	Right Ventricle	heart
11	chr9:116901200-116905000	Enhancers	Fetal Lung	lung
12	chr9:116901400-116903000	Enhancers	Brain Anterior Caudate	brain
13	chr9:116901800-116903000	Enhancers	Colon Smooth Muscle	Colon
14	chr9:116901800-116903200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
15	chr9:116901800-116903200	Enhancers	Lung	lung
16	chr9:116901800-116903600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr9:116901800-116904000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr9:116901800-116904400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr9:116901800-116904800	Enhancers	Fetal Heart	heart
20	chr9:116901800-116904800	Enhancers	Ovary	ovary
21	chr9:116901800-116905000	Enhancers	Right Atrium	heart
22	chr9:116902000-116903000	Weak transcription	Spleen	Spleen
23	chr9:116902000-116903400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr9:116902200-116902800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr9:116902200-116903800	Weak transcription	Adipose Nuclei	Adipose
26	chr9:116902200-116906000	Enhancers	Fetal Stomach	stomach
27	chr9:116902400-116903400	Weak transcription	Liver	Liver
28	chr9:116902400-116904200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr9:116902400-116905600	Enhancers	HSMMtube	muscle
30	chr9:116902600-116903800	Weak transcription	Stomach Mucosa	stomach
31	chr9:116902600-116904800	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr9:116902600-116907800	Enhancers	Fetal Muscle Leg	muscle

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